Linked Data
dbSNP Id:
rs767366160
ExAC:
2:112687036 G / A
gnomAD v2:
2-112687036-G-A
gnomAD v3:
2-111929459-G-A
gnomAD v4:
2-111929459-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111929459G>A , CM000664.2:g.111929459G>A | GRCh38 |
| NC_000002.11:g.112687036G>A , CM000664.1:g.112687036G>A | GRCh37 |
| NC_000002.10:g.112403507G>A | NCBI36 |
| NG_011607.1:g.35846G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.401G>A MANE Select | ENSP00000295408.4:p.Gly134Glu | |
| ENST00000295408.8:c.401G>A | ENSP00000295408.4:p.Gly134Glu | |
| ENST00000409780.5:c.-46-15501G>A | ENSP00000387277.1:n.-46-15501G>A | |
| ENST00000421804.6:c.401G>A | ENSP00000389152.2:p.Gly134Glu | |
| ENST00000439966.5:c.246+155G>A | ENSP00000402129.1:n.246+155G>A | |
| ENST00000616902.4:c.-815G>A | ENSP00000482824.1:n.-815G>A | |
| NM_006343.2:c.401G>A | NP_006334.2:p.Gly134Glu | |
| XM_005263565.3:c.401G>A | XP_005263622.1:p.Gly134Glu | |
| XM_005263568.3:c.401G>A | XP_005263625.1:p.Gly134Glu | |
| XM_011510490.1:c.212G>A | XP_011508792.1:p.Gly71Glu | |
| XM_005263565.4:c.401G>A | XP_005263622.1:p.Gly134Glu | |
| XM_005263568.4:c.401G>A | XP_005263625.1:p.Gly134Glu | |
| XM_011510490.3:c.212G>A | XP_011508792.1:p.Gly71Glu | |
| XM_017003164.1:c.212G>A | XP_016858653.1:p.Gly71Glu | |
| XM_017003165.2:c.-867G>A | XP_016858654.1:n.-867G>A | |
| NM_006343.3:c.401G>A MANE Select | NP_006334.2:p.Gly134Glu |